737 related articles for article (PubMed ID: 24502041)
1. Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses.
Sireteanu A; Braha E; Popescu R; Gramescu M; Gorduza EV; Rusu C
Rev Med Chir Soc Med Nat Iasi; 2013; 117(3):731-4. PubMed ID: 24502041
[TBL] [Abstract][Full Text] [Related]
2. Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K; Antonacci F; Callewaert B; Loeys B; Fränkel U; Siu V; Mortier G; Speleman F; Menten B
Eur J Med Genet; 2009; 52(1):31-6. PubMed ID: 19041960
[TBL] [Abstract][Full Text] [Related]
3. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
García-Santiago FA; Martínez-Glez V; Santos F; García-Miñaur S; Mansilla E; Meneses AG; Rosell J; Granero ÁP; Vallespín E; Fernández L; Sierra B; Oliver-Bonet M; Palomares M; de Torres ML; Mori MÁ; Nevado J; Heath KE; Delicado A; Lapunzina P
Am J Med Genet A; 2015 May; 167A(5):1018-25. PubMed ID: 25712135
[TBL] [Abstract][Full Text] [Related]
4. Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
Knijnenburg J; Uytdewilligen MEW; van Hassel DACM; Oostenbrink R; Eussen BHJ; de Klein A; Brooks AS; van Zutven LJCM
Eur J Med Genet; 2017 Sep; 60(9):445-450. PubMed ID: 28602932
[TBL] [Abstract][Full Text] [Related]
5. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization.
Guo WJ; Callif-Daley F; Zapata MC; Miller ME
Am J Med Genet; 1995 Sep; 58(3):230-6. PubMed ID: 8533823
[TBL] [Abstract][Full Text] [Related]
6. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Heide S; Keren B; Billette de Villemeur T; Chantot-Bastaraud S; Depienne C; Nava C; Mignot C; Jacquette A; Fonteneau E; Lejeune E; Mach C; Marey I; Whalen S; Lacombe D; Naudion S; Rooryck C; Toutain A; Caignec CL; Haye D; Olivier-Faivre L; Masurel-Paulet A; Thauvin-Robinet C; Lesne F; Faudet A; Ville D; des Portes V; Sanlaville D; Siffroi JP; Moutard ML; Héron D
J Pediatr; 2017 Jun; 185():160-166.e1. PubMed ID: 28284480
[TBL] [Abstract][Full Text] [Related]
7. [Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].
Mei M; Yang L; Zhan G; Wang H; Ma D; Zhou W; Huang G
Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):460-3. PubMed ID: 25190168
[TBL] [Abstract][Full Text] [Related]
8. Inv21p12q22del21q22 and intellectual disability.
Oliveira R; Dória S; Madureira C; Lima V; Almeida C; Pinho MJ; Ramalho C; Matoso E; Barros A; Carreira IM; Moura CP
Gene; 2013 Mar; 517(1):120-4. PubMed ID: 23266646
[TBL] [Abstract][Full Text] [Related]
9. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
Barber JC; Maloney VK; Huang S; Bunyan DJ; Cresswell L; Kinning E; Benson A; Cheetham T; Wyllie J; Lynch SA; Zwolinski S; Prescott L; Crow Y; Morgan R; Hobson E
Eur J Hum Genet; 2008 Jan; 16(1):18-27. PubMed ID: 17940555
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.
Park CH; Kim HJ; Lee ST; Seo JM; Kim SH
Gene; 2014 Mar; 537(2):343-7. PubMed ID: 24393711
[TBL] [Abstract][Full Text] [Related]
11. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Vibert R; Mignot C; Keren B; Chantot-Bastaraud S; Portnoï MF; Nouguès MC; Moutard ML; Faudet A; Whalen S; Haye D; Garel C; Chatron N; Rossi M; Vincent-Delorme C; Boute O; Delobel B; Andrieux J; Devillard F; Coutton C; Puechberty J; Pebrel-Richard C; Colson C; Gerard M; Missirian C; Sigaudy S; Busa T; Doco-Fenzy M; Malan V; Rio M; Doray B; Sanlaville D; Siffroi JP; Héron D; Heide S
Clin Genet; 2022 Mar; 101(3):307-316. PubMed ID: 34866188
[TBL] [Abstract][Full Text] [Related]
12. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
13. Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p).
Caglayan AO; Engelen JJ; Ghesquiere S; Alofs M; Saatci C; Dundar M
Genet Couns; 2009; 20(4):333-40. PubMed ID: 20162868
[TBL] [Abstract][Full Text] [Related]
14. Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.
Manolakos E; Vetro A; Papadopoulou E; Kefalas K; Lagou M; Thomaidis L; Peitsidis P; Sifakis S; Divane A; Ziegler M; Liehr T; Zuffardi O; Papoulidis I
Cytogenet Genome Res; 2013; 140(1):12-20. PubMed ID: 23652918
[TBL] [Abstract][Full Text] [Related]
15. Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.
Huynh MT; Riteau AS; Moradkhani K; Pichon O; Richard S; Joubert M; Bézieau S
Eur J Med Genet; 2021 Jan; 64(1):104118. PubMed ID: 33248287
[TBL] [Abstract][Full Text] [Related]
16. Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction.
Chen CP; Ko TM; Huang WC; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Pan CW; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2016 Jun; 55(3):415-8. PubMed ID: 27343326
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.
Akkurt MO; Higgs A; Turan OT; Turan OM; Turan S
Am J Med Genet A; 2017 Mar; 173(3):776-779. PubMed ID: 28211984
[TBL] [Abstract][Full Text] [Related]
18. [Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome].
Han X; Zhang JM; Jiang WT; Hu Q; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Aug; 27(4):361-6. PubMed ID: 20677137
[TBL] [Abstract][Full Text] [Related]
19. Molecular characterization of inv dup del(8p): analysis of five cases.
Shimokawa O; Kurosawa K; Ida T; Harada N; Kondoh T; Miyake N; Yoshiura K; Kishino T; Ohta T; Niikawa N; Matsumoto N
Am J Med Genet A; 2004 Jul; 128A(2):133-7. PubMed ID: 15214003
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Fisch GS; Davis R; Youngblom J; Gregg J
Behav Genet; 2011 May; 41(3):373-80. PubMed ID: 21259039
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
